کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2796841 | 1155622 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
علوم غدد
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families](/preview/png/2796841.png)
چکیده انگلیسی
Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously described, reinforcing the worldwide prevalence of GCK MODY and widespread existence of undetected new mutations.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Diabetes Research and Clinical Practice - Volume 100, Issue 2, May 2013, Pages e42–e45
Journal: Diabetes Research and Clinical Practice - Volume 100, Issue 2, May 2013, Pages e42–e45
نویسندگان
Fernando M.A. Giuffrida, Luis Eduardo Calliari, Thais Della Manna, João Guimarães Ferreira, Pedro Saddi-Rosa, Ilda S. Kunii, Gilberto K. Furuzawa, Magnus R. Dias-da-Silva, Andre F. Reis,